A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693209



Internal ID116875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:74135532..74135674hg38UCSC Ensembl
chr13:74709669..74709811hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494671
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693209
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer